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Tricho-hepato-enteric syndrome presenting with mild colitis.
Odul Egritas1, Buket Dalgic, Meltem Onder
1Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey. odulmd2003@yahoo.com
European Journal of Pediatrics
|November 5, 2008
Summary
A rare genetic disorder, tricho-hepato-enteric syndrome, can present with mild symptoms including chronic diarrhea and failure to thrive. This case highlights a mild phenotypic variant possibly associated with colitis.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
Background:
- A pediatric case presenting with congenital diarrhea and failure to thrive.
- Investigated for syndromic causes of chronic infant diarrhea.
Observation:
- Patient exhibited facial dysmorphism, hepatomegaly, and characteristic wooly hair.
- Microscopic examination confirmed trichorrhexis nodosa.
Findings:
- Colonoscopy revealed mild colitis.
- Histopathology supported mild inflammatory changes in the colonic mucosa.
- Diagnosis considered a mild variant of tricho-hepato-enteric syndrome.
Implications:
- Suggests a spectrum of clinical presentation for tricho-hepato-enteric syndrome.
- Highlights the potential for colitis in mild phenotypic variants.
- Emphasizes the importance of considering genetic syndromes in unexplained pediatric gastrointestinal issues.
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